The cylindromatosis (CYLD) gene and head and neck tumorigenesis.
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ABSTRACT: Germline CYLD mutation is associated with the development of a rare inheritable syndrome, called the CYLD cutaneous syndrome. Patients with this syndrome are distinctly presented with multiple tumors in the head and neck region, which can grow in size and number over time. Some of these benign head and neck tumors can turn into malignancies in some individuals. CYLD has been identified to be the only tumor suppressor gene reported to be associated with this syndrome thus far. Here, we summarize all reported CYLD germline mutations associated with this syndrome, as well as the reported paired somatic CYLD mutations of the developed tumors. Interestingly, whole-exome sequencing (WES) studies of multiple cancer types also revealed CYLD mutations in ma
SUBMITTER: Verhoeft KR
PROVIDER: S-EPMC6460526 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
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